Effects of CoQ10 Replacement Therapy on the Audiological Characteristics of Pediatric Patients with COQ6 Variants

Primary coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations

(2021) María Alcázar-Fabra et al.   FREE RADICAL BIOLOGY AND MEDICINE

Potential Implications of Slim Modiolar Electrodes for Severely Malformed Cochleae: A Comparison With the Straight Array With Circumferential Electrodes

(2021) Sang-Yeon Lee et al.   Clinical and Experimental Otorhinolaryngology

TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling

(2021) In Seok Moon et al.   Frontiers in Genetics

The molecular etiology of deafness and auditory performance in the postlingually deafened cochlear implantees

(2020) Sang-Yeon Lee et al.   Scientific Reports

Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis

(2020) Eujin Park et al.   Journal of Clinical Medicine

Cochlear Implantation and Electric Acoustic Stimulation in Children With TMPRSS3 Genetic Mutation

(2020) Jourdan T. Holder et al.   OTOLOGY & NEUROTOLOGY

Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype

(2019) Zeynep Yuruk Yildirim et al.   European Journal of Medical Genetics

CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy—a case report

(2018) Małgorzata Stańczyk et al.   PEDIATRIC NEPHROLOGY

Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance

(2017) A. Eliot Shearer et al.   HEARING RESEARCH

Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function

(2017) Luis Vazquez Fonseca et al.   HUMAN MUTATION

Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome

(2016) V.P. Vandana et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

TheCOQ2genotype predicts the severity of coenzyme Q10deficiency

(2016) Maria Andrea Desbats et al.   HUMAN MOLECULAR GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The Outcome of Cochlear Implantation for Mitochondrial Disease Patients With Syndromic Hearing Loss

(2015) Norio Yamamoto et al.   OTOLOGY & NEUROTOLOGY

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)

(2013) Emmanuel Scalais et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The Clinical and Audiologic Features of Hearing Loss Due to Mitochondrial Mutations

(2013) Joshua C. Yelverton et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ10)

(2012) Rita Horvath   JOURNAL OF INHERITED METABOLIC DISEASE

Primary and secondary CoQ10 deficiencies in humans

(2011) Catarina M. Quinzii et al.   BIOFACTORS

Coenzyme Q Biosynthesis: Coq6 Is Required for the C5-Hydroxylation Reaction and Substrate Analogs Rescue Coq6 Deficiency

(2011) Mohammad Ozeir et al.   CHEMISTRY & BIOLOGY

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

(2011) Saskia F. Heeringa et al.   JOURNAL OF CLINICAL INVESTIGATION